Vascular Involvements Are Common in the Branch Arteries of the Abdominal Aorta Rather Than in the Aorta in Vascular Ehlers-Danlos Syndrome.

Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder with poor prognosis, owing to associated vascular complications. However, the most prevalent arterial problems in patients with vEDS are not well known. Methods: We retrospectively examined 20 consecutive patients diagnosed with vEDS and examined their clinical events, image findings, and therapies. Results: The age at first complication requiring admission was 29 ± 13 years. The observational period was 67 ± 30 months. Of the 20 patients, 17 took celiprolol at final assessment. At the final follow-up, the total number of complications relating to lesions and requiring admission was 16 for pulmonary lesions (8 patients), 16 for bowel lesions (8 patients), 5 for tendon/ligament lesions (2 patients), 18 for the branch arteries of the abdominal aorta (10 patients), 2 for the aorta (2 patients), and 7 for other arteries (6 patients). Of 54 arterial involvements (aneurysms, dissections, and ruptures), both with and without symptoms, 43 (80%) were in branches of the abdominal aorta (celiac artery and branches, 8; superior mesenteric artery, 4; renal arteries, 3; iliac arteries and branches, 28), 2 (4%) were in the aorta, and 9 were in other arteries. The diameter of the sinus of Valsalva was 29 ± 5 mm, within the normal range. During follow-up, 3 patients died due to suspected ruptures in a branch of the celiac artery, the superior mesenteric artery, and the aorta. Conclusion: Our findings indicate that lesions involving the branch arteries of the abdominal aorta, rather than aorta, were the most prevalent lesion type in patients with vEDS.

Contexte: Le syndrome d'Ehlers-Danlos vasculaire (SEDv) est une affection rare au pronostic sombre en raison des complications vasculaires qui y sont associées. Toutefois, les problèmes artériels les plus fréquents chez les patients atteints de SEDv sont mal connus. Méthodologie: Nous avons analysé de manière rétrospective les cas de 20 patients consécutifs ayant reçu un diagnostic de SEDv. Les données relatives aux manifestations cliniques, les résultats des examens d'imagerie et les traitements prescrits ont été examinés. Résultats: L'âge auquel la première complication nécessitant une hospitalisation est survenue était de 29 ± 13 ans. La période d'observation était de 67 ± 30 mois. Parmi ces 20 patients, 17 recevaient du céliprolol lors de l'évaluation finale. Lors de la dernière visite de suivi, le nombre total de complications associées aux lésions et ayant nécessité une hospitalisation comprenaient : 16 lésions pulmonaires (8 patients), 16 lésions intestinales (8 patients), 5 lésions tendineuses ou ligamentaires (2 patients), 18 complications touchant les ramifications (artères) de l'aorte abdominale (10 patients), 2 complications aortiques (2 patients) et 7 complications d'autres artères (6 patients). Sur les 54 atteintes artérielles (anévrismes, dissections et ruptures), qu'elles aient été symptomatiques ou pas, 43 (80 %) concernaient des ramifications de l'aorte abdominale (artère cœliaque et ses ramifications, 8; artère mésentérique supérieure, 4; artères rénales, 3; artère iliaque et ses ramifications, 28), 2 (4 %) concernaient l'aorte, et 9, d'autres artères. Le diamètre du sinus de Valsalva était de 29 ± 5 mm, soit dans les limites de la normale. Au cours de la période de suivi, 3 patients sont décédés en raison de ruptures suspectées d'une ramification de l'artère cœliaque, de l'artère mésentérique supérieure et de l'aorte. Conclusion: Les résultats de nos analyses indiquent que les lésions touchant des ramifications de l'aorte abdominale, plutôt que de l'aorte elle-même, étaient les types de lésions les plus fréquents chez les patients atteints de SEDv.

Outcomes of 8 Years of Noninvasive Prenatal Testing at Nippon Medical School Hospital.

BACKGROUND: Noninvasive prenatal testing (NIPT) is used to screen for fetal chromosomal abnormalities, such as fetal aneuploidy, and has been offered at our hospital since 2013. We analyzed data from our center to determine if NIPT screenees could be given more-accurate information on NIPT outcomes. METHODS: This retrospective observational study included 819 pregnant women who requested NIPT at Nippon Medical School Hospital from November 2013 to October 2021. We examined medical records for data on NIPT results and clinical outcomes. RESULTS: Of the 819 women, 764 (93.2%) underwent NIPT, and 55 (6.7%) did not. Of the 764 women who underwent NIPT, 17 received a positive result (2.2%), of whom 2 (11.8%), 4 (23.5%), and 11 (64.7%) received a positive result for trisomy 13, 18, and 21, respectively. The true-positive rates after definitive diagnoses of trisomy 13, 18, and 21 were 1 (50%), 3 (75%), and 11 (100%), respectively. Of the 17 positive results, there were two false-positive results (11.8%) (for trisomy 13 and trisomy 18). Eleven women with fetal aneuploidy terminated their pregnancies, and four cases resulted in intrauterine fetal death. Five neonates with negative NIPT results had congenital disease without chromosomal abnormality. Two patients had indeterminate results from the first blood sampling, possibly because of treatment with unfractionated heparin. The results of repeat testing after heparin cessation were negative. CONCLUSIONS: Our results were generally similar to nationwide data for Japan. NIPT providers can provide more detailed and individualized genetic counseling for each situation by understanding their own medical facility's data in detail.